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Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
- Published in:
- Child's Nervous System, 2024, v. 40, n. 8, p. 2457, doi. 10.1007/s00381-024-06380-1
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- Publication type:
- Article
Children and Young Adults with Epilepsy Exhibit an Interictal Autonomic Dysfunction: A Prospective Exploratory Study.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 7, p. 670, doi. 10.3390/brainsci14070670
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- Publication type:
- Article
Magnetic resonance fingerprinting‐based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies.
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- NMR in Biomedicine, 2024, v. 37, n. 6, p. 1, doi. 10.1002/nbm.5114
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- Publication type:
- Article
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 : A New Case Report and Review of the Literature.
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- Genes, 2024, v. 15, n. 5, p. 548, doi. 10.3390/genes15050548
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- Publication type:
- Article
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
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- Behavioural Neurology, 2024, v. 2024, p. 1, doi. 10.1155/2024/1023861
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- Publication type:
- Article
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2864, doi. 10.3390/ijms25052864
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- Publication type:
- Article
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 375, doi. 10.3233/JND-221513
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- Publication type:
- Article
Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping.
- Published in:
- 2024
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- Publication type:
- Case Study
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study.
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- Bioengineering (Basel), 2024, v. 11, n. 2, p. 176, doi. 10.3390/bioengineering11020176
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- Publication type:
- Article
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 208, doi. 10.3390/genes15020208
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- Publication type:
- Article
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16636, doi. 10.3390/ijms242316636
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- Publication type:
- Article
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1245014
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- Publication type:
- Article
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
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- Genes, 2023, v. 14, n. 7, p. 1363, doi. 10.3390/genes14071363
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- Publication type:
- Article
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 6, p. 951, doi. 10.3390/brainsci13060951
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- Publication type:
- Article
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9138, doi. 10.3390/ijms24119138
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- Publication type:
- Article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
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- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
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- Publication type:
- Article
Expanding the natural history of CASK‐related disorders to the prenatal period.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 4, p. 544, doi. 10.1111/dmcn.15419
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- Publication type:
- Article
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1152237
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- Publication type:
- Article
Further characterization of NFIB‐associated phenotypes: Report of two new individuals.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 540, doi. 10.1002/ajmg.a.63018
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- Publication type:
- Article
Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 269, doi. 10.3390/brainsci13020269
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- Publication type:
- Article
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 17, p. 10586, doi. 10.3390/ijerph191710586
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- Publication type:
- Article
Parental Practices and Environmental Differences among Infants Living in Upper-Middle and High-Income Countries: A Cross-Sectional Study.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 17, p. 10833, doi. 10.3390/ijerph191710833
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- Publication type:
- Article
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
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- Journal of Neurology, 2022, v. 269, n. 9, p. 4884, doi. 10.1007/s00415-022-11133-8
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- Publication type:
- Article
New Technological Approach for the Evaluation of Postural Control Abilities in Children with Developmental Coordination Disorder.
- Published in:
- Children, 2022, v. 9, n. 7, p. N.PAG, doi. 10.3390/children9070957
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- Publication type:
- Article
Trehalose Treatment in Zebrafish Model of Lafora Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6874, doi. 10.3390/ijms23126874
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- Publication type:
- Article
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 859, doi. 10.3390/genes13050859
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- Publication type:
- Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Publication type:
- Article
Looking for "fNIRS Signature" in Autism Spectrum: A Systematic Review Starting From Preschoolers.
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- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.785993
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- Publication type:
- Article
The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01820-5
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- Publication type:
- Article
Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum Disorder.
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- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2021.776860
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- Publication type:
- Article
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 276, doi. 10.3390/genes13020276
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- Publication type:
- Article
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020174
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- Publication type:
- Article
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 1, p. 437, doi. 10.1007/s00415-021-10792-3
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- Publication type:
- Article
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.
- Published in:
- Audiology Research, 2021, v. 11, n. 4, p. 609, doi. 10.3390/audiolres11040055
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- Publication type:
- Article
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1660, doi. 10.3390/genes12111660
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- Publication type:
- Article
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01162-w
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- Publication type:
- Article
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblasts.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 9, p. 3381, doi. 10.1007/s00415-021-10509-6
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- Publication type:
- Article
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8490, doi. 10.3390/ijms22168490
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- Publication type:
- Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
- Published in:
- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Publication type:
- Article
The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1123, doi. 10.3390/genes12081123
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- Publication type:
- Article
Parental Distress in the Time of COVID-19: A Cross-Sectional Study on Pediatric Patients with Neuropsychiatric Conditions during Lockdown.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 15, p. 7902, doi. 10.3390/ijerph18157902
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- Publication type:
- Article
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3222, doi. 10.3390/jcm10153222
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- Publication type:
- Article
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
- Published in:
- 2021
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- Publication type:
- journal article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
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- Publication type:
- Article
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.
- Published in:
- 2021
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- Publication type:
- Case Study
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.
- Published in:
- PLoS ONE, 2021, v. 16, n. 5, p. 1, doi. 10.1371/journal.pone.0250420
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- Publication type:
- Article
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 511, doi. 10.3390/genes12040511
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- Publication type:
- Article
A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With Tetrabenazine.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.612429
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- Publication type:
- Article